Variant report

Variant	rs10179791
Chromosome Location	chr2:186603618-186603619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:186603602-186603991	MCF-7	breast:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
2	RAD21	chr2:186603602-186603963	GM12878	blood:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
3	CEBPB	chr2:186603510-186603988	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:186603482-186604049	H1-hESC	embryonic stem cell:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
5	SIN3A	chr2:186603254-186603999	H1-hESC	embryonic stem cell:	n/a	chr2:186603607-186603620 chr2:186603598-186603609
6	JUND	chr2:186603410-186603978	H1-hESC	embryonic stem cell:	n/a	chr2:186603498-186603507 chr2:186603581-186603590 chr2:186603773-186603782
7	RAD21	chr2:186603610-186603960	HepG2	liver:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
8	CTCF	chr2:186603493-186604062	MCF-7	breast:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
9	RAD21	chr2:186603586-186604000	HepG2	liver:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
10	CTCF	chr2:186603534-186604152	K562	blood:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
11	NANOG	chr2:186603606-186603956	H1-hESC	embryonic stem cell:	n/a	chr2:186603767-186603776
12	CTCF	chr2:186603604-186603999	MCF-7	breast:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
13	RUNX3	chr2:186603538-186603932	GM12878	blood:	n/a	n/a
14	RAD21	chr2:186603572-186604001	ECC-1	luminal epithelium:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
15	MAZ	chr2:186603460-186603902	HepG2	liver:	n/a	n/a
16	TAF1	chr2:186603275-186603749	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:186603618-186603968	GM13977	blood:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
18	CTCF	chr2:186603612-186603976	GM19240	blood:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
19	ZNF143	chr2:186602928-186604030	H1-hESC	embryonic stem cell:	n/a	chr2:186603847-186603857 chr2:186603849-186603867 chr2:186603856-186603866 chr2:186603766-186603784
20	POLR2A	chr2:186603573-186603787	MCF-7	breast:	n/a	n/a
21	MAX	chr2:186603497-186604067	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr2:186603212-186604114	H1-hESC	embryonic stem cell:	n/a	chr2:186603499-186603508 chr2:186603853-186603867
23	FOSL1	chr2:186603612-186604050	H1-hESC	embryonic stem cell:	n/a	chr2:186603773-186603782
24	YY1	chr2:186603612-186603903	GM12878	blood:	n/a	chr2:186603853-186603867
25	RUNX3	chr2:186603514-186603998	GM12878	blood:	n/a	n/a
26	YY1	chr2:186603348-186604030	H1-hESC	embryonic stem cell:	n/a	chr2:186603499-186603508 chr2:186603853-186603867
27	CTCF	chr2:186603615-186603982	GM12878	blood:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
28	CTCF	chr2:186603597-186603972	NHEK	skin:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
29	KAP1	chr2:186603176-186604027	HEK293	kidney:	n/a	n/a
30	TCF12	chr2:186603605-186603934	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr2:186603475-186604057	HepG2	liver:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
32	POLR2A	chr2:186603587-186603866	HUVEC	blood vessel:	n/a	n/a
33	RAD21	chr2:186603617-186603984	IMR90	lung:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
34	POLR2A	chr2:186603350-186603983	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:186603607-186603988	H1-hESC	embryonic stem cell:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
36	FOSL2	chr2:186603555-186603946	HepG2	liver:	n/a	chr2:186603581-186603590 chr2:186603773-186603782
37	MAX	chr2:186603546-186603984	MCF-7	breast:	n/a	n/a
38	MAZ	chr2:186603617-186603985	K562	blood:	n/a	n/a
39	GTF2F1	chr2:186603543-186603931	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr2:186603481-186604099	MCF-7	breast:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
41	CTCF	chr2:186603589-186603969	IMR90	lung:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
42	POLR2A	chr2:186603604-186603837	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF7	chr2:186603487-186604034	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr2:186603108-186603953	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr2:186603603-186603995	GM19238	blood:	n/a	chr2:186603891-186603904 chr2:186603835-186603853 chr2:186603850-186603863 chr2:186603830-186603851
46	POLR2A	chr2:186603167-186603972	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr2:186603400-186604174	MCF-7	breast:	n/a	chr2:186603835-186603847 chr2:186603833-186603852 chr2:186603884-186603898
48	USF2	chr2:186603160-186604178	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr2:186603605-186603967	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZNF143	chr2:186603576-186603999	GM12878	blood:	n/a	chr2:186603847-186603857 chr2:186603849-186603867 chr2:186603856-186603866 chr2:186603766-186603784

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186603293..186603807-chr8:145027949..145028449,2	MCF-7	breast:
2	chr2:186603383..186603935-chr8:145027949..145028449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226747	TF binding region
FSIP2	TF binding region
ENSG00000178209	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10169285	1.00[AMR][1000 genomes]
rs10170081	1.00[AMR][1000 genomes]
rs10173413	1.00[AMR][1000 genomes]
rs10174313	1.00[AMR][1000 genomes]
rs10185775	1.00[AMR][1000 genomes]
rs10203681	1.00[AMR][1000 genomes]
rs10210260	1.00[AMR][1000 genomes]
rs12328728	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407821	1.00[AMR][1000 genomes]
rs13416617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13428796	1.00[AMR][1000 genomes]
rs28553302	1.00[AMR][1000 genomes]
rs7567786	1.00[AMR][1000 genomes]
rs9653245	1.00[AMR][1000 genomes]
rs969961	1.00[AMR][1000 genomes]
rs9808218	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186602800-186604000	Active TSS	Right Ventricle	heart
2	chr2:186602800-186604400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:186603000-186603800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:186603000-186604000	Active TSS	Duodenum Mucosa	Duodenum
5	chr2:186603000-186604000	Active TSS	Right Atrium	heart
6	chr2:186603000-186604200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:186603000-186604200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:186603000-186604200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:186603000-186604200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:186603000-186604200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:186603000-186604400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:186603000-186604400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:186603200-186603800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:186603200-186603800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:186603200-186603800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:186603200-186603800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr2:186603200-186603800	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr2:186603200-186603800	Flanking Active TSS	Placenta	Placenta
19	chr2:186603200-186603800	Active TSS	Stomach Mucosa	stomach
20	chr2:186603200-186604000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:186603200-186604000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:186603200-186604000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:186603200-186604000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:186603200-186604000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:186603200-186604000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr2:186603200-186604000	Active TSS	Fetal Intestine Small	intestine
27	chr2:186603200-186604000	Active TSS	Fetal Kidney	kidney
28	chr2:186603200-186604000	Active TSS	Fetal Stomach	stomach
29	chr2:186603200-186604000	Flanking Active TSS	Pancreas	Pancrea
30	chr2:186603200-186604000	Active TSS	NH-A	brain
31	chr2:186603200-186604200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:186603200-186604200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr2:186603200-186604200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:186603200-186604200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:186603200-186604200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:186603200-186604200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:186603200-186604200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr2:186603200-186604200	Active TSS	HSMM	muscle
39	chr2:186603200-186604200	Active TSS	Osteobl	bone
40	chr2:186603200-186604400	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:186603200-186604400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:186603200-186604400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:186603200-186605600	Enhancers	Fetal Heart	heart
44	chr2:186603400-186603800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:186603400-186603800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:186603400-186603800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:186603400-186603800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:186603400-186603800	Active TSS	Liver	Liver
49	chr2:186603400-186603800	Active TSS	Colonic Mucosa	Colon
50	chr2:186603400-186603800	ZNF genes & repeats	Esophagus	oesophagus

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